A32T (p.Ala32Thr) variant of CACNB2 (Q08289)
A32T (p.Ala32Thr) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- cosmic curated COSV56634
- gnomAD rs1243958682
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.29
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.39
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available